ClinVar for MedGen (Select 6640) - ClinVar

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Items: 55

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 8799711.	NM_001164277.2(SLC37A4):c.-594A>T GRCh37: Chr11:118901340 GRCh38: Chr11:119030630	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8799702.	NM_001164277.2(SLC37A4):c.-439T>C GRCh37: Chr11:118901185 GRCh38: Chr11:119030475	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8796133.	NM_001164277.2(SLC37A4):c.-99A>G GRCh37: Chr11:118900178 GRCh38: Chr11:119029468	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8781514.	NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=) GRCh37: Chr11:118900035 GRCh38: Chr11:119029325	SLC37A4		Glucose-6-phosphate transport defect, Glycogen storage disease, type I	Conflicting interpretations of pathogenicity (Dec 7, 2021)	criteria provided, conflicting interpretations
Select item 8781505.	NM_001164277.2(SLC37A4):c.148+7C>T GRCh37: Chr11:118899925 GRCh38: Chr11:119029215	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 8781046.	NM_001164277.2(SLC37A4):c.*204C>T GRCh37: Chr11:118895416 GRCh38: Chr11:119024706	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8779427.	NM_001164277.2(SLC37A4):c.*263T>C GRCh37: Chr11:118895357 GRCh38: Chr11:119024647	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8779418.	NM_001164277.2(SLC37A4):c.*338T>C GRCh37: Chr11:118895282 GRCh38: Chr11:119024572	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8771169.	NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val) GRCh37: Chr11:118899011 GRCh38: Chr11:119028301	SLC37A4	I19V, I92V	Glucose-6-phosphate transport defect, Glycogen storage disease, type I	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87711510.	NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=) GRCh37: Chr11:118898946 GRCh38: Chr11:119028236	SLC37A4		Glucose-6-phosphate transport defect, Glycogen storage disease, type I	Conflicting interpretations of pathogenicity (Dec 5, 2020)	criteria provided, conflicting interpretations
Select item 87711411.	NM_001164277.2(SLC37A4):c.390G>C (p.Glu130Asp) GRCh37: Chr11:118898574 GRCh38: Chr11:119027864	SLC37A4	E130D, E57D	Glycogen storage disease, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 58157112.	NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe) GRCh37: Chr11:118898449 GRCh38: Chr11:119027739	SLC37A4	S172F, S99F	Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Inborn genetic diseases, Glycogen storage disease, type I, Glucose-6-phosphate transport defect	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43186913.	NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln) GRCh37: Chr11:118898908 GRCh38: Chr11:119028198	SLC37A4	R126Q, R53Q	Glycogen storage disease, type I, Inborn genetic diseases, Glucose-6-phosphate transport defect, not provided	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39212614.	NM_001164277.2(SLC37A4):c.-183C>T GRCh37: Chr11:118900262 GRCh38: Chr11:119029552	SLC37A4		not specified, Glycogen storage disease, type I	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 32340415.	NM_000151.4(G6PC1):c.*2687del GRCh37: Chr17:41066117 GRCh38: Chr17:42914100	G6PC1		Glycogen storage disease, type I	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32339916.	NM_000151.4(G6PC1):c.*2311C>T GRCh37: Chr17:41065754 GRCh38: Chr17:42913737	G6PC1		Glycogen storage disease, type I	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32338917.	NM_000151.4(G6PC1):c.*1545TTTTAGAA[1] GRCh37: Chr17:41064988-41064995 GRCh38: Chr17:42912971-42912978	G6PC1		Glycogen storage disease, type I	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32338518.	NM_000151.4(G6PC1):c.*1313A>G GRCh37: Chr17:41064756 GRCh38: Chr17:42912739	G6PC1		Glycogen storage disease, type I	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32338219.	NM_000151.4(G6PC1):c.*1227dup GRCh37: Chr17:41064655-41064656 GRCh38: Chr17:42912638-42912639	G6PC1		Glycogen storage disease, type I	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30272220.	NM_001164277.1(SLC37A4):c.-755T>A GRCh37: Chr11:118901614 GRCh38: Chr11:119030904	SLC37A4		not provided, Glycogen storage disease, type I	Benign (Jun 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30272121.	NM_001164277.2(SLC37A4):c.-700+9C>T GRCh37: Chr11:118901550 GRCh38: Chr11:119030840	SLC37A4		Glycogen storage disease, type I, not specified	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 30272022.	NM_001164277.2(SLC37A4):c.-670C>T GRCh37: Chr11:118901416 GRCh38: Chr11:119030706	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30271923.	NM_001164277.2(SLC37A4):c.-573C>G GRCh37: Chr11:118901319 GRCh38: Chr11:119030609	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30271824.	NM_001164277.2(SLC37A4):c.-420G>C GRCh37: Chr11:118901166 GRCh38: Chr11:119030456	SLC37A4		not provided, Glycogen storage disease, type I	Benign (Jun 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30271725.	NM_001164277.2(SLC37A4):c.-384G>A GRCh37: Chr11:118901130 GRCh38: Chr11:119030420	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30271626.	NM_001164277.2(SLC37A4):c.-291del GRCh37: Chr11:118901037 GRCh38: Chr11:119030327	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30271527.	NM_001164277.2(SLC37A4):c.-279C>T GRCh37: Chr11:118901025 GRCh38: Chr11:119030315	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30271428.	NM_001164277.2(SLC37A4):c.-217G>A GRCh37: Chr11:118900963 GRCh38: Chr11:119030253	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30271329.	NM_001164277.2(SLC37A4):c.-195-11G>T GRCh37: Chr11:118900285 GRCh38: Chr11:119029575	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30271230.	NM_001164277.2(SLC37A4):c.-108G>A GRCh37: Chr11:118900187 GRCh38: Chr11:119029477	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30271131.	NM_001164277.2(SLC37A4):c.-64C>T GRCh37: Chr11:118900143 GRCh38: Chr11:119029433	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30271032.	NM_001164277.2(SLC37A4):c.-50T>G GRCh37: Chr11:118900129 GRCh38: Chr11:119029419	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30270933.	NM_001164277.2(SLC37A4):c.-42G>C GRCh37: Chr11:118900121 GRCh38: Chr11:119029411	SLC37A4		Glycogen storage disease, type I	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30270834.	NM_001164277.2(SLC37A4):c.382-6C>A GRCh37: Chr11:118898588 GRCh38: Chr11:119027878	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30270735.	NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=) GRCh37: Chr11:118898499 GRCh38: Chr11:119027789	SLC37A4		Glycogen storage disease, type I, Glucose-6-phosphate transport defect	Conflicting interpretations of pathogenicity (Jan 28, 2022)	criteria provided, conflicting interpretations
Select item 30270636.	NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=) GRCh37: Chr11:118898472 GRCh38: Chr11:119027762	SLC37A4		not specified, Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Glycogen storage disease, type I	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 30270537.	NM_001164277.2(SLC37A4):c.1119C>T (p.Ala373=) GRCh37: Chr11:118895905 GRCh38: Chr11:119025195	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30270438.	NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr) GRCh37: Chr11:118895685 GRCh38: Chr11:119024975	SLC37A4	A409T, A431T, A336T	Glucose-6-phosphate transport defect, Glycogen storage disease, type I	Conflicting interpretations of pathogenicity (Mar 13, 2018)	criteria provided, conflicting interpretations
Select item 30270339.	NM_001164277.2(SLC37A4):c.*5A>C GRCh37: Chr11:118895615 GRCh38: Chr11:119024905	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30270240.	NM_001164277.2(SLC37A4):c.*31C>T GRCh37: Chr11:118895589 GRCh38: Chr11:119024879	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30270141.	NM_001164277.2(SLC37A4):c.*125G>C GRCh37: Chr11:118895495 GRCh38: Chr11:119024785	SLC37A4		Glycogen storage disease, type I, not provided	Benign (Jun 23, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30270042.	NM_001164277.2(SLC37A4):c.*138C>T GRCh37: Chr11:118895482 GRCh38: Chr11:119024772	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30269943.	NM_001164277.2(SLC37A4):c.*139G>T GRCh37: Chr11:118895481 GRCh38: Chr11:119024771	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30269844.	NM_001164277.2(SLC37A4):c.*283T>C GRCh37: Chr11:118895337 GRCh38: Chr11:119024627	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30269745.	NM_001164277.2(SLC37A4):c.*298C>T GRCh37: Chr11:118895322 GRCh38: Chr11:119024612	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30269646.	NM_001164277.2(SLC37A4):c.*360C>G GRCh37: Chr11:118895260 GRCh38: Chr11:119024550	SLC37A4		Glycogen storage disease, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30269547.	NM_001164277.2(SLC37A4):c.*418T>C GRCh37: Chr11:118895202 GRCh38: Chr11:119024492	SLC37A4		Glycogen storage disease, type I	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 28553248.	NM_000151.4(G6PC1):c.340+10C>A GRCh37: Chr17:41056067 GRCh38: Chr17:42904050	G6PC1		not specified, not provided, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 21517749.	NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) GRCh37: Chr11:118898497 GRCh38: Chr11:119027787	SLC37A4	A156V, A83V	Phosphate transport defect, Glucose-6-phosphate transport defect, Glycogen storage disease, type I, not provided, Glucose-6-phosphate transport defect	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 13919550.	NM_001164277.2(SLC37A4):c.-516G>A GRCh37: Chr11:118901262 GRCh38: Chr11:119030552	SLC37A4		Glycogen storage disease, type I, not specified	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 13918751.	NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=) GRCh37: Chr11:118899102 GRCh38: Chr11:119028392	SLC37A4		Glycogen storage disease, type I, not specified, Glucose-6-phosphate transport defect	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13918652.	NM_001164277.2(SLC37A4):c.149-14A>G GRCh37: Chr11:118899150 GRCh38: Chr11:119028440	SLC37A4		Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glycogen storage disease, type I, not specified, Glucose-6-phosphate transport defect, Phosphate transport defect	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6829053.	NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) GRCh37: Chr11:118899999 GRCh38: Chr11:119029289	SLC37A4	N27K	Glycogen storage disease, type I, Glucose-6-phosphate transport defect	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 2106254.	NM_000151.4(G6PC1):c.79del (p.Gln27fs) GRCh37: Chr17:41052970 GRCh38: Chr17:42900953	G6PC1	Q27fs	Glycogen storage disease, type I, not provided, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Pathogenic (Jan 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 692855.	NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) GRCh37: Chr11:118898998 GRCh38: Chr11:119028288	SLC37A4	W96, W23	Glycogen storage disease, type I, Glucose-6-phosphate transport defect	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations

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Items: 55